biostudies-literatureJiang YNational Natural Science Foundation of China769636https://www.ebi.ac.uk/biostudies/studies/S-EPMC8672680biostudies-literatureUnknown9<i>BMP4</i> variants have been reported to be associated with syndromic microphthalmia (MCOPS6, OMIM 607932). This study aims to describe <i>BMP4</i> truncation mutations contributing to a novel phenotype in eight patients from four Chinese families. In this study, <i>BMP4</i> variants were collected from a large dataset from in-house exome sequencing. Candidate variants were filtered by multiple <i>in silico</i> tools as well as comparison with data from multiple databases. Potential pathogenic variants were further confirmed by Sanger sequencing and cosegregation analysis. Four novel truncation variants in <i>BMP4</i> were detected in four out of 7,314 unrelated probands with different eye conditions. These four mutations in the four families solely cosegregated in all eight patients witFrontiers in cell and developmental biologyNovel <i>BMP4</i> Truncations Resulted in Opposite Ocular Anomalies: Pathologic Myopia Rather Than Microphthalmia.PMC867268081770965Jiang YLi XZhou LWang PLi SXiao XJia XOuyang JSun WWang YZhang QfalseNovel <i>BMP4</i> Truncations Resulted in Opposite Ocular Anomalies: Pathologic Myopia Rather Than Microphthalmia.<i>BMP4</i> variants have been reported to be associated with syndromic microphthalmia (MCOPS6, OMIM 607932). This study aims to describe <i>BMP4</i> truncation mutations contributing to a novel phenotype in eight patients from four Chinese families. In this study, <i>BMP4</i> variants were collected from a large dataset from in-house exome sequencing. Candidate variants were filtered by multiple <i>in silico</i> tools as well as comparison with data from multiple databases. Potential pathogenic variants were further confirmed by Sanger sequencing and cosegregation analysis. Four novel truncation variants in <i>BMP4</i> were detected in four out of 7,314 unrelated probands with different eye conditions. These four mutations in the four families solely cosegregated in all eight patients wit2021-01-01T00:00:00Z20212026-05-07T20:16:47.749Z2022-02-11T15:02:41.552ZS-EPMC86726803492645710.3389/fcell.2021.769636